SNP Detail For rs10516487
1.Mapping Information
Human SNP ID rs10516487
Human chromosome chr4
Human SNP position 101829919
Pig chromosome chr8
Pig SNP position 128321011
2.Annotation Information
PubMed ID18204447
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18204447
StudyFunctional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Disease/TraitSystemic lupus erythematosus
Initial sample279 European ancestry cases, 515 European ancestry controls
Replication sample1,757 European ancestry cases, 1,540 European ancestry controls
Region4q24
Chromosome idchr4
Chromosome position101829919
Reported geneBANK1
Mapped geneBANK1
Upstream gene id
Downstream gene id
SNP gene ids55024
Upstream gene distance
Downstream gene distance
SNP risk allelers10516487-G
SNPsrs10516487
Merged0
SNP id current10516487
Contextmissense_variant
Intergenic0
Allele frequency0.77
P value0.0000000004
Pvalue mlog9.39794000867203
P value text
Or beta1.38
%95 Ci[1.25-1.53]
PlatformAffymetrix [85042]
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST000143
PubMed ID26502338
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26502338
StudyGenetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
Disease/TraitSystemic lupus erythematosus
Initial sample5,201 European ancestry cases, 9,066 European ancestry controls
Replication sampleNA
Region4q24
Chromosome idchr4
Chromosome position101829919
Reported geneBANK1
Mapped geneBANK1
Upstream gene id
Downstream gene id
SNP gene ids55024
Upstream gene distance
Downstream gene distance
SNP risk allelers10516487-G
SNPsrs10516487
Merged0
SNP id current10516487
Contextmissense_variant
Intergenic0
Allele frequency
P value0.00000008
Pvalue mlog7.09691001300805
P value text
Or beta1.16
%95 Ci[NR]
PlatformIllumina [> 644674] (imputed)
CNVN
Mapped traitsystemic lupus erythematosus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0002690
Study accessionGCST003156